Article
Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine.
Proceedings of the National Academy of Sciences of the United States of America - 7 Sept 2010
Suzuki Masashi, Van Paesschen Wim, Stalmans Ingeborg, Horita Shoko, Yamada Hideomi, Bergmans Bruno A, Legius Eric, Riant Florence, De Jonghe Peter, Li Yuehong, Sekine Takashi, Igarashi Takashi, Fujimoto Ichiro, Mikoshiba Katsuhiko, Shimadzu Mitsunobu, Shiohara Masaaki, Braverman Nancy, Al-Gazali Lihadh, Fujita Toshiro, Seki George
Abstract excerpt
Homozygous mutations in SLC4A4, encoding the electrogenic Na(+)-HCO(3)(-) cotransporter NBCe1, have been known to cause proximal renal tubular acidosis (pRTA) and ocular abnormalities. In this study, we report two sisters with pRTA, ocular abnormalities, and hemiplegic migraine. Genetic analysis...
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